Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33947 | 102064;102065;102066 | chr2:178534776;178534775;178534774 | chr2:179399503;179399502;179399501 |
| N2AB | 32306 | 97141;97142;97143 | chr2:178534776;178534775;178534774 | chr2:179399503;179399502;179399501 |
| N2A | 31379 | 94360;94361;94362 | chr2:178534776;178534775;178534774 | chr2:179399503;179399502;179399501 |
| N2B | 24882 | 74869;74870;74871 | chr2:178534776;178534775;178534774 | chr2:179399503;179399502;179399501 |
| Novex-1 | 25007 | 75244;75245;75246 | chr2:178534776;178534775;178534774 | chr2:179399503;179399502;179399501 |
| Novex-2 | 25074 | 75445;75446;75447 | chr2:178534776;178534775;178534774 | chr2:179399503;179399502;179399501 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Y
- RefSeq wild type transcript codon: TAC
- RefSeq wild type template codon: ATG
- Domain: Kinase-1
- Domain position: 135
- Q(SASA): 0.0959
- Predicted PPI site: N
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs557060548  |
-2.422 | None | N | None | 0.571 | 0.594679051289 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.5E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs557060548 |
-2.422 | None | N | None | 0.571 | 0.594679051289 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs557060548 |
-2.422 | None | N | None | 0.571 | 0.594679051289 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| Y/C | rs557060548 |
-2.422 | None | N | None | 0.571 | 0.594679051289 | gnomAD-4.0.0 | 2.47939E-06 | None | None | None | None | N | None | 2.66532E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69522E-06 | 0 | 0 |
| Y/S | rs557060548 |
-3.898 | None | N | None | 0.624 | 0.735346534977 | gnomAD-4.0.0 | 1.36892E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99463E-07 | 0 | 1.65656E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9561 | likely_pathogenic | 0.9537 | pathogenic | -3.335 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.5327 | ambiguous | 0.5135 | ambiguous | -2.332 | Highly Destabilizing | None | None | None | None | N | 0.435932855 | None | None | N |
| Y/D | 0.9822 | likely_pathogenic | 0.9796 | pathogenic | -3.461 | Highly Destabilizing | None | None | None | None | N | 0.506312873 | None | None | N |
| Y/E | 0.9917 | likely_pathogenic | 0.9903 | pathogenic | -3.263 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.1628 | likely_benign | 0.1686 | benign | -1.464 | Destabilizing | None | None | None | None | N | 0.400414772 | None | None | N |
| Y/G | 0.9347 | likely_pathogenic | 0.9299 | pathogenic | -3.715 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.8045 | likely_pathogenic | 0.7916 | pathogenic | -2.469 | Highly Destabilizing | None | None | None | None | D | 0.525167993 | None | None | N |
| Y/I | 0.8749 | likely_pathogenic | 0.8609 | pathogenic | -2.063 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.9853 | likely_pathogenic | 0.983 | pathogenic | -2.236 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.7306 | likely_pathogenic | 0.7128 | pathogenic | -2.063 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.9285 | likely_pathogenic | 0.9215 | pathogenic | -2.113 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.921 | likely_pathogenic | 0.9161 | pathogenic | -2.909 | Highly Destabilizing | None | None | None | None | N | 0.495365161 | None | None | N |
| Y/P | 0.9856 | likely_pathogenic | 0.9861 | pathogenic | -2.503 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.9768 | likely_pathogenic | 0.9733 | pathogenic | -2.713 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.9489 | likely_pathogenic | 0.9386 | pathogenic | -1.962 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.8642 | likely_pathogenic | 0.8548 | pathogenic | -3.294 | Highly Destabilizing | None | None | None | None | N | 0.495018444 | None | None | N |
| Y/T | 0.952 | likely_pathogenic | 0.95 | pathogenic | -2.974 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.8287 | likely_pathogenic | 0.813 | pathogenic | -2.503 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.7051 | likely_pathogenic | 0.6898 | pathogenic | -0.692 | Destabilizing | None | None | None | None | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.